Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut PLEKHB2 55041 broad.mit.edu 37 2 131883340 131883340 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr2:131883340C>T ENST00000403716.1 + 3 612 c.52C>T c.(52-54)Cgc>Tgc p.R18C PLEKHB2_ENST00000538982.1_5'UTR|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.R18C|PLEKHB2_ENST00000404460.1_Missense_Mutation_p.R18C|PLEKHB2_ENST00000303908.3_Missense_Mutation_p.R18C|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.R18C|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.R18C|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.R18C|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.R18C|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.R18C NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2 NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2 Q96CS7 PKHB2_HUMAN pleckstrin homology domain containing, family B (evectins) member 2 18 PH. membrane protein binding large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.0828) TATTTTGAAGCGCTGGAAGAA 0.403000 20 81 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91784768 91784768 + Splice_Site SNP T T A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr1:91784768T>A ENST00000370425.3 - 25 2779 c.e25-2 HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000294696.5_Splice_Site|HFM1_ENST00000462405.1_Splice_Site NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CTGACAACCCTAAAAAAAAAG 0.299000 9 52 0 0 1 0 0 ACTL9 284382 broad.mit.edu 37 19 8808431 8808431 + Silent SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr19:8808431G>A ENST00000324436.3 - 1 741 c.621C>T c.(619-621)ccC>ccT p.P207P NM_178525.3 NP_848620.3 Q8TC94 ACTL9_HUMAN actin-like 9 207 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 CCTGGAAGACGGGCACTGTGT 0.672000 5 60 0 0 1 0 0 SEPT10 151011 broad.mit.edu 37 2 110303744 110303744 + Missense_Mutation SNP C C T rs146905811 by1000genomes TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr2:110303744C>T ENST00000356688.4 - 10 1547 c.1232G>A c.(1231-1233)aGa>aAa p.R411K SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000415095.1_Missense_Mutation_p.R411K|SEPT10_ENST00000397712.2_Missense_Mutation_p.R411K|SEPT10_ENST00000437928.1_Missense_Mutation_p.R396K|SEPT10_ENST00000397714.2_Missense_Mutation_p.R388K|SEPT10_ENST00000334001.6_Missense_Mutation_p.R278K|SEPT10_ENST00000545389.1_Missense_Mutation_p.R244K Q9P0V9 SEP10_HUMAN septin 10 411 cell cycle|cell division septin complex GTP binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 TTCCAAAAGTCTTCTCTTTTC 0.423000 OREG0014878 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 80 0 0 1 0 0 MSL3 10943 broad.mit.edu 37 X 11783730 11783730 + Silent SNP C C A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chrX:11783730C>A ENST00000337339.2 + 9 1080 c.1053C>A c.(1051-1053)tcC>tcA p.S351S MSL3_ENST00000398527.2_Silent_p.S339S|MSL3_ENST00000361672.2_Silent_p.S202S|MSL3_ENST00000312196.4_Silent_p.S351S|MSL3_ENST00000380693.3_Silent_p.S185S NM_078628.1 NP_523352.1 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3 homolog (Drosophila) 351 histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 TGAGGCGGTCCACGCGCCACA 0.627000 25 109 5.45024e-15 6.303e-15 1 1 0 ABCC6P1 653190 broad.mit.edu 37 16 18597216 18597216 + RNA SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr16:18597216C>T ENST00000546162.2 + 0 956 NR_003569.1 ACTTGTTTCCCGGCTTGAAAA 0.537000 20 48 0 0 1 0 0 LRRC56 115399 broad.mit.edu 37 11 553969 553969 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr11:553969C>T ENST00000270115.7 + 14 1822 c.1322C>T c.(1321-1323)tCc>tTc p.S441F NM_198075.3 NP_932341.1 Q8IYG6 LRC56_HUMAN leucine rich repeat containing 56 441 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTAGAGCCCTCCGGGACCTCG 0.657000 6 92 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145558848 145558848 + Missense_Mutation SNP C C A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr1:145558848C>A ENST00000355594.4 + 7 554 c.467C>A c.(466-468)cCc>cAc p.P156H ANKRD35_ENST00000544626.1_Missense_Mutation_p.P137T NM_144698.3 NP_653299.4 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 156 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGACGTACACCCCTGATGATC 0.572000 28 95 1.62565e-12 1.85477e-12 1 1 0 SBSN 374897 broad.mit.edu 37 19 36018766 36018766 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr19:36018766G>A ENST00000452271.2 - 1 446 c.418C>T c.(418-420)Cac>Tac p.H140Y SBSN_ENST00000518157.1_Intron NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 139 Ala/Gly/His-rich. extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TTGGCCCCGTGATGGACCCCA 0.592000 7 153 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578208 7578208 + Missense_Mutation SNP T T C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr17:7578208T>C ENST00000420246.2 - 6 773 c.641A>G c.(640-642)cAt>cGt p.H214R TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000269305.4_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 214 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CACCACACTATGTCGAAAAGT 0.542000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 8 16 0 0 1 0 0 DIAPH1 1729 broad.mit.edu 37 5 140906009 140906009 + Missense_Mutation SNP T T G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr5:140906009T>G ENST00000253811.6 - 25 3436 c.3296A>C c.(3295-3297)cAg>cCg p.Q1099P DIAPH1_ENST00000398566.3_Missense_Mutation_p.Q1090P|DIAPH1_ENST00000518047.1_Missense_Mutation_p.Q1086P|DIAPH1_ENST00000389057.5_Missense_Mutation_p.Q1089P|DIAPH1_ENST00000398557.4_Missense_Mutation_p.Q1098P|DIAPH1_ENST00000520569.1_Missense_Mutation_p.Q1041P|DIAPH1_ENST00000389054.3_Missense_Mutation_p.Q1095P|DIAPH1_ENST00000398562.2_Missense_Mutation_p.Q1074P O60610 DIAP1_HUMAN diaphanous-related formin 1 1098 FH2. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATACTGTTCCTGTGCATCCTT 0.473000 13 47 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr1:142713773C>G ENST00000610091.1 - 0 1885 TCTTTTTCCACATTGTCATTT 0.284000 4 55 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3087572 3087572 + Silent SNP A A T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr8:3087572A>T ENST00000602557.1 - 28 4893 c.4338T>A c.(4336-4338)ccT>ccA p.P1446P CSMD1_ENST00000539096.1_Silent_p.P1445P|CSMD1_ENST00000602723.1_Silent_p.P1446P|CSMD1_ENST00000400186.3_Silent_p.P1446P|CSMD1_ENST00000542608.1_Silent_p.P1445P|CSMD1_ENST00000537824.1_Silent_p.P1445P|CSMD1_ENST00000520002.1_Silent_p.P1446P|CSMD1_ENST00000523387.1_5'UTR Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1446 Sushi 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTATGCATGTAGGAGGGTCTG 0.433000 10 38 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62467439 62467439 + Silent SNP A A T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr3:62467439A>T ENST00000383710.4 - 22 3481 c.3132T>A c.(3130-3132)acT>acA p.T1044T CADPS_ENST00000283269.9_Intron|CADPS_ENST00000357948.3_Intron NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 1044 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GTGCCGAAAAAGTAGGCATTT 0.418000 15 72 0 0 1 0 0 SLC25A35 399512 broad.mit.edu 37 17 8197982 8197982 + Silent SNP A A G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr17:8197982A>G ENST00000380067.2 - 1 188 c.144T>C c.(142-144)caT>caC p.H48H SLC25A35_ENST00000577745.1_Silent_p.H48H|SLC25A35_ENST00000396278.1_Silent_p.H48H|SLC25A35_ENST00000580340.1_Silent_p.H48H|SLC25A35_ENST00000579192.1_Silent_p.H48H NM_201520.1 NP_958928.1 Q3KQZ1 S2535_HUMAN solute carrier family 25, member 35 48 transport integral to membrane|mitochondrial inner membrane breast(2)|large_intestine(2)|lung(2) 6 TGATGAAGGCATGGAAGACAT 0.577000 8 20 0 0 1 0 0 BCKDK 10295 broad.mit.edu 37 16 31122700 31122700 + Silent SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr16:31122700C>T ENST00000394951.1 + 11 1548 c.925C>T c.(925-927)Ctg>Ttg p.L309L BCKDK_ENST00000287507.3_Intron|BCKDK_ENST00000394950.3_Silent_p.L309L|BCKDK_ENST00000219794.6_Silent_p.L309L O14874 BCKD_HUMAN branched chain ketoacid dehydrogenase kinase 309 Histidine kinase. branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation mitochondrial alpha-ketoglutarate dehydrogenase complex [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity breast(1)|stomach(1) 2 TGATGTCGATCTGATCATCAG 0.517000 4 62 0 0 1 0 0 CBL 867 broad.mit.edu 37 11 119149324 119149324 + Missense_Mutation SNP G G T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr11:119149324G>T ENST00000264033.4 + 9 1708 c.1332G>T c.(1330-1332)agG>agT p.R444S NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 444 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) GCCTGTTGAGGCAAGGAGCAG 0.498000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 13 47 0.00316338 0.00327911 1 1 0 EFHC2 80258 broad.mit.edu 37 X 44037689 44037689 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chrX:44037689G>A ENST00000420999.1 - 12 1956 c.1873C>T c.(1873-1875)Cac>Tac p.H625Y EFHC2_ENST00000343571.3_5'UTR NM_025184.3 NP_079460.2 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 625 calcium ion binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 AACTTTTCGTGGGCCAGTGCG 0.383000 8 16 0 0 1 0 0 SPG7 6687 broad.mit.edu 37 16 89620971 89620971 + Splice_Site SNP G G T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr16:89620971G>T ENST00000268704.2 + 16 2196 c.2181G>T c.(2179-2181)gcG>gcT p.A727A NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 727 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) AGTTGCAGGCGGTGAGGCCCT 0.612000 5 5 2.0095e-06 2.17589e-06 1 1 0 SLC22A8 9376 broad.mit.edu 37 11 62782370 62782370 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr11:62782370C>T ENST00000336232.2 - 2 196 c.61G>A c.(61-63)Gta>Ata p.V21I SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000430500.2_Missense_Mutation_p.V21I|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Missense_Mutation_p.V21I NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 21 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 AGTATGGCTACATGCAGGAAC 0.612000 33 94 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13571644 13571644 + Silent SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr4:13571644C>T ENST00000040738.5 - 26 9282 c.9147G>A c.(9145-9147)gcG>gcA p.A3049A NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 3049 DNA binding ATTATCGCTTCGCTTTTTTCA 0.552000 3 15 0 0 1 0 0 ZNF678 339500 broad.mit.edu 37 1 227842170 227842170 + Silent SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr1:227842170G>A ENST00000343776.5 + 4 564 c.219G>A c.(217-219)gtG>gtA p.V73V ZNF678_ENST00000608949.1_Silent_p.V73V|ZNF678_ENST00000397097.3_Silent_p.V128V NM_178549.3 NP_848644.2 F5GXA7 F5GXA7_HUMAN zinc finger protein 678 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) GGAGAACTGTGAATGAAGGTA 0.368000 4 86 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304770 102304770 + RNA SNP C C T rs62026988 by1000genomes TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr15:102304770C>T ENST00000561463.1 + 0 12816 GGCACAGCGGCGTGACGAGAC 0.592000 5 19 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148496425 148496425 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr7:148496425G>A ENST00000325222.4 + 21 2474 c.2195G>A c.(2194-2196)gGc>gAc p.G732D CUL1_ENST00000602748.1_Missense_Mutation_p.G732D|CUL1_ENST00000409469.1_Missense_Mutation_p.G732D NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 732 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) CAGTTACTTGGCGAGGTCCTC 0.448000 8 45 0 0 1 0 0 FOXO4 4303 broad.mit.edu 37 X 70316509 70316509 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chrX:70316509C>T ENST00000374259.3 + 1 463 c.131C>T c.(130-132)cCg>cTg p.P44L FOXO4_ENST00000341558.3_Missense_Mutation_p.P44L|FOXO4_ENST00000466874.1_3'UTR NM_001170931.1|NM_005938.3 NP_001164402.1|NP_005929.2 P98177 FOXO4_HUMAN forkhead box O4 44 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1) 18 Renal(35;0.156) GCTAACCAGCCGTCCGAGCCG 0.672000 3 12 0 0 1 0 0 FGG 2266 broad.mit.edu 37 4 155529730 155529730 + Missense_Mutation SNP T T C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr4:155529730T>C ENST00000404648.3 - 7 978 c.739A>G c.(739-741)Act>Gct p.T247A FGG_ENST00000407946.1_Missense_Mutation_p.T255A|FGG_ENST00000405164.1_Missense_Mutation_p.T255A|FGG_ENST00000336098.3_Missense_Mutation_p.T247A NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 247 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.T247P(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GTTGTGCCAGTAGGAGACAGA 0.393000 25 55 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19188911 19188911 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr22:19188911C>T ENST00000263200.10 - 23 3766 c.3694G>A c.(3694-3696)Gtt>Att p.V1232I CLTCL1_ENST00000427926.1_Missense_Mutation_p.V1232I|CLTCL1_ENST00000353891.5_Missense_Mutation_p.V1232I|CLTCL1_ENST00000442042.2_5'UTR NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1232 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) CCGAGGTGAACCAAGGTGGAA 0.582000 T ? ALCL 5 19 0 0 1 0 0 MAGEA5 4104 broad.mit.edu 37 X 151283579 151283579 + RNA SNP C C A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chrX:151283579C>A ENST00000509345.2 - 0 757 AGGAAAGCAGCGCTTGTAATT 0.498000 18 146 3.76114e-14 4.32022e-14 1 1 0 OR51B2 79345 broad.mit.edu 37 11 5345004 5345004 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr11:5345004G>A ENST00000328813.2 - 1 578 c.524C>T c.(523-525)gCt>gTt p.A175V HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGGCAGAAAGCACGTGTGAT 0.383000 24 47 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96784143 96784143 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr14:96784143C>T ENST00000359933.4 - 19 3822 c.2929G>A c.(2929-2931)Gag>Aag p.E977K NM_018036.5 NP_060506 Q96BY7 ATG2B_HUMAN autophagy related 2B 977 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TCGAATGTCTCCACTGGTGAA 0.368000 21 110 0 0 1 0 0 CCAR1 55749 broad.mit.edu 37 10 70520777 70520777 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr10:70520777G>A ENST00000265872.6 + 16 2053 c.1934G>A c.(1933-1935)cGa>cAa p.R645Q CCAR1_ENST00000535016.1_Missense_Mutation_p.R630Q|CCAR1_ENST00000543719.1_Missense_Mutation_p.R630Q NM_001282959.1|NM_001282960.1|NM_018237.2 NP_001269888.1|NP_001269889.1|NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 645 SAP. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 AATGACCTCCGAAAAGAATTA 0.408000 16 105 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75500328 75500328 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr15:75500328G>A ENST00000360639.2 + 2 2259 c.1939G>A c.(1939-1941)Gtg>Atg p.V647M C15orf39_ENST00000567617.1_Missense_Mutation_p.V647M|C15orf39_ENST00000394987.4_Missense_Mutation_p.V647M Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 647 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CCACAGCTCTGTGGCCTTCAT 0.592000 14 35 0 0 1 0 0 SLC20A2 6575 broad.mit.edu 37 8 42317497 42317497 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr8:42317497G>A ENST00000342228.3 - 5 899 c.530C>T c.(529-531)cCc>cTc p.P177L SLC20A2_ENST00000520262.1_Missense_Mutation_p.P177L|SLC20A2_ENST00000520179.1_Missense_Mutation_p.P177L NM_006749.4 NP_006740.1 Q08357 S20A2_HUMAN solute carrier family 20 (phosphate transporter), member 2 177 interspecies interaction between organisms integral to plasma membrane|membrane fraction inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1) 26 all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869) GAGGCCATTGGGAACAGGGTC 0.478000 10 32 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49940714 49940714 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr3:49940714C>T ENST00000296474.3 - 1 356 c.329G>A c.(328-330)gGa>gAa p.G110E CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.G110E NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 110 Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) GCCGTGGGGTCCTGGGCCACA 0.687000 20 60 0 0 1 0 0 STK33 65975 broad.mit.edu 37 11 8486364 8486364 + Missense_Mutation SNP G G C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr11:8486364G>C ENST00000447869.1 - 3 1263 c.345C>G c.(343-345)atC>atG p.I115M STK33_ENST00000315204.1_Missense_Mutation_p.I115M|STK33_ENST00000396672.1_Missense_Mutation_p.I115M|STK33_ENST00000358872.3_De_novo_Start_InFrame|STK33_ENST00000534493.1_Missense_Mutation_p.I74M|STK33_ENST00000396673.1_Missense_Mutation_p.I115M Q9BYT3 STK33_HUMAN serine/threonine kinase 33 115 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) CAAAGGTATAGATTTCCTGGA 0.353000 11 47 0 0 1 0 0 FAM131B 9715 broad.mit.edu 37 7 143055951 143055951 + Silent SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr7:143055951G>A ENST00000409408.1 - 4 2059 c.351C>T c.(349-351)agC>agT p.S117S FAM131B_ENST00000409222.3_Silent_p.S117S|FAM131B_ENST00000409578.1_Silent_p.S133S|FAM131B_ENST00000443739.2_Silent_p.S145S|FAM131B_ENST00000409346.1_Silent_p.S117S Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 117 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) TCTCGCCATCGCTGAGGTCGG 0.572000 10 19 0 0 1 0 0 ACTL9 284382 broad.mit.edu 37 19 8808070 8808070 + Silent SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr19:8808070G>A ENST00000324436.3 - 1 1102 c.982C>T c.(982-984)Ctg>Ttg p.L328L NM_178525.3 NP_848620.3 Q8TC94 ACTL9_HUMAN actin-like 9 328 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 CGCATCTCCAGTGACAACTTG 0.657000 13 40 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20620433 20620433 + Missense_Mutation SNP A A C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr4:20620433A>C ENST00000504154.1 + 37 4643 c.4391A>C c.(4390-4392)aAg>aCg p.K1464T SLIT2_ENST00000273739.5_Missense_Mutation_p.K1477T|SLIT2_ENST00000503823.1_Missense_Mutation_p.K1456T|SLIT2_ENST00000503837.1_Missense_Mutation_p.K1460T NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1464 CTCK. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TATTACCAAAAGCAGCAGGGC 0.478000 5 56 0 0 1 0 0 CDH1 999 broad.mit.edu 37 16 68849604 68849604 + Nonsense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr16:68849604C>T ENST00000261769.5 + 10 1698 c.1507C>T c.(1507-1509)Cag>Tag p.Q503* RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Nonsense_Mutation_p.Q442*|CDH1_ENST00000562836.1_3'UTR NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 503 Cadherin 4. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(1) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) TGGCGTGGGCCAGGAAATCAC 0.498000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 35 79 0 0 1 0 0 SLC9A8 23315 broad.mit.edu 37 20 48466170 48466170 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr20:48466170G>A ENST00000417961.1 + 6 697 c.487G>A c.(487-489)Gca>Aca p.A163T SLC9A8_ENST00000361573.2_Missense_Mutation_p.A163T|SLC9A8_ENST00000539601.1_5'UTR|SLC9A8_ENST00000541138.1_5'UTR NM_001260491.1|NM_015266.2 NP_001247420.1|NP_056081.1 Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 163 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) TTTTGGGACGGCAATCTCCGC 0.378000 4 142 0 0 1 0 0 MAGEB1 4112 broad.mit.edu 37 X 30269413 30269413 + Missense_Mutation SNP A A G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chrX:30269413A>G ENST00000378981.3 + 4 1124 c.803A>G c.(802-804)tAt>tGt p.Y268C MAGEB1_ENST00000397550.1_Missense_Mutation_p.Y268C|MAGEB1_ENST00000397548.2_Missense_Mutation_p.Y268C NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 268 MAGE. NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 CCCCCACGCTATCAATTCCTA 0.502000 17 68 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176018311 176018311 + Missense_Mutation SNP T T C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr5:176018311T>C ENST00000510636.1 + 29 3914 c.3640T>C c.(3640-3642)Tac>Cac p.Y1214H CDHR2_ENST00000261944.5_Missense_Mutation_p.Y1214H|CDHR2_ENST00000506348.1_Missense_Mutation_p.Y1214H NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 1214 homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GACTAACATGTACAACACTGA 0.592000 6 32 0 0 1 0 0 FANCB 2187 broad.mit.edu 37 X 14877338 14877338 + Missense_Mutation SNP A A G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chrX:14877338A>G ENST00000398334.1 - 4 1337 c.1070T>C c.(1069-1071)tTt>tCt p.F357S FANCB_ENST00000324138.3_Missense_Mutation_p.F357S NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 357 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) CGTTATTTTAAATGAAGTCAG 0.308000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 21 80 0 0 1 0 0 PPARD 5467 broad.mit.edu 37 6 35378912 35378912 + Missense_Mutation SNP G G C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr6:35378912G>C ENST00000311565.4 + 4 397 c.48G>C c.(46-48)gaG>gaC p.E16D PPARD_ENST00000448077.2_Intron|PPARD_ENST00000337400.2_Missense_Mutation_p.E16D|PPARD_ENST00000444397.1_Missense_Mutation_p.E16D|PPARD_ENST00000418635.2_Missense_Mutation_p.E16D|PPARD_ENST00000540939.1_5'UTR|PPARD_ENST00000360694.3_Missense_Mutation_p.E16D NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 16 apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) AAGAGGAGGAGAAAGAGGAAG 0.617000 6 23 0 0 1 0 0 PI4K2A 55361 broad.mit.edu 37 10 99426242 99426242 + Nonsense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr10:99426242C>T ENST00000370631.3 + 7 1189 c.1132C>T c.(1132-1134)Cag>Tag p.Q378* PI4K2A_ENST00000555577.1_Nonsense_Mutation_p.Q348*|PI4K2A_ENST00000370649.3_Nonsense_Mutation_p.Q348* NM_018425.2 NP_060895.1 Q9BTU6 P4K2A_HUMAN phosphatidylinositol 4-kinase type 2 alpha 378 PI3K/PI4K. phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) CCCATTTTCTCAGGAGATCAA 0.468000 32 39 0 0 1 0 0 ZNF611 81856 broad.mit.edu 37 19 53209767 53209767 + Missense_Mutation SNP C C G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr19:53209767C>G ENST00000543227.1 - 6 815 c.541G>C c.(541-543)Gag>Cag p.E181Q ZNF611_ENST00000453741.2_Missense_Mutation_p.E112Q|ZNF611_ENST00000540744.1_Missense_Mutation_p.E181Q|ZNF611_ENST00000595798.1_Missense_Mutation_p.E112Q|ZNF611_ENST00000602162.1_Missense_Mutation_p.E112Q|ZNF611_ENST00000319783.1_Missense_Mutation_p.E181Q NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) GTAGACTTCTCAAGTTGATTA 0.383000 6 179 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54096554 54096554 + Missense_Mutation SNP T T C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr2:54096554T>C ENST00000404125.1 - 44 5277 c.5222A>G c.(5221-5223)aAg>aGg p.K1741R PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Missense_Mutation_p.K885R NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1741 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AGGGTCTCGCTTTCTTTTCTT 0.423000 44 156 0 0 1 0 0 REG1B 5968 broad.mit.edu 37 2 79314043 79314043 + Silent SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr2:79314043C>T ENST00000305089.3 - 3 158 c.78G>A c.(76-78)caG>caA p.Q26Q NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 26 cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 GCAGCTCTGTCTGGGACTCCT 0.498000 5 114 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84629023 84629023 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr7:84629023C>T ENST00000284136.6 - 17 2110 c.2067G>A c.(2065-2067)atG>atA p.M689I SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 689 cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 GGGTATTTTCCATCTGTTCAT 0.458000 17 61 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32041568 32041568 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr6:32041568C>T ENST00000375244.3 - 12 4738 c.4537G>A c.(4537-4539)Ggg>Agg p.G1513R TNXB_ENST00000375247.2_Missense_Mutation_p.G1513R P22105 TENX_HUMAN tenascin XB 1600 Fibronectin type-III 7. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TGGGGCTGCCCGTCCTTGTCC 0.562000 4 12 0 0 1 0 0 CXorf40B 541578 broad.mit.edu 37 X 149102008 149102008 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chrX:149102008G>A ENST00000370406.3 - 4 913 c.85C>T c.(85-87)Cct>Tct p.P29S CXorf40B_ENST00000462691.1_Missense_Mutation_p.P29S|CXorf40B_ENST00000370404.1_Missense_Mutation_p.P29S|CXorf40B_ENST00000355203.2_Missense_Mutation_p.P29S Q96DE9 CX04B_HUMAN chromosome X open reading frame 40B 29 endometrium(1)|lung(4) 5 Acute lymphoblastic leukemia(192;6.56e-05) CTCAGCAGAGGACGCCAGCGC 0.597000 5 67 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 32 0 0 1 0 0 PKD2L2 27039 broad.mit.edu 37 5 137271546 137271546 + Missense_Mutation SNP T T A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr5:137271546T>A ENST00000508638.1 + 11 1484 c.1429T>A c.(1429-1431)Tct>Act p.S477T PKD2L2_ENST00000502810.1_Missense_Mutation_p.S556T|PKD2L2_ENST00000290431.5_Missense_Mutation_p.S578T|PKD2L2_ENST00000350250.4_Missense_Mutation_p.S544T|PKD2L2_ENST00000508883.1_Missense_Mutation_p.S578T NM_001258449.1 NP_001245378.1 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 578 integral to membrane calcium ion binding|ion channel activity breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AAAGTATTATTCTATGGAAAT 0.393000 9 58 0 0 1 0 0 KRT39 390792 broad.mit.edu 37 17 39122800 39122800 + Missense_Mutation SNP C C G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr17:39122800C>G ENST00000355612.2 - 1 344 c.309G>C c.(307-309)ttG>ttC p.L103F AC004231.2_ENST00000418393.1_RNA NM_213656.3 NP_998821.3 Q6A163 K1C39_HUMAN keratin 39 103 Coil 1A.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) GGCGCTCGTTCAAGATTTGCA 0.443000 4 185 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144931145 144931145 + Silent SNP T T A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr1:144931145T>A ENST00000529945.1 - 1 1003 c.564A>T c.(562-564)cgA>cgT p.R188R PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313431.9_Silent_p.R188R|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369359.4_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGGCCACCTTTCGAGGTACCT 0.552000 T PDGFRB MPD 12 83 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145004320 145004320 + Silent SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr8:145004320G>A ENST00000322810.4 - 21 3184 c.3015C>T c.(3013-3015)gcC>gcT p.A1005A PLEC_ENST00000398774.2_Silent_p.A836A|PLEC_ENST00000354589.3_Silent_p.A868A|PLEC_ENST00000357649.2_Silent_p.A872A|PLEC_ENST00000354958.2_Silent_p.A846A|PLEC_ENST00000436759.2_Silent_p.A895A|PLEC_ENST00000345136.3_Silent_p.A868A|PLEC_ENST00000356346.3_Silent_p.A854A|PLEC_ENST00000527096.1_Silent_p.A891A NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1005 Globular 1. Missing (in MD-EBS). cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACCTGGTGACGGCCTCCTGGG 0.731000 2 1 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71549941 71549941 + Missense_Mutation SNP T T C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr9:71549941T>C ENST00000265382.3 + 13 1642 c.1337T>C c.(1336-1338)tTt>tCt p.F446S PIP5K1B_ENST00000541509.1_Missense_Mutation_p.F446S NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 446 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) GGACAAAGTTTTAGCAGCCTT 0.373000 26 61 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36342422 36342422 + Silent SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr19:36342422G>A ENST00000378910.5 - 2 210 c.211C>T c.(211-213)Ctg>Ttg p.L71L NPHS1_ENST00000353632.6_Silent_p.L71L NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 71 Ig-like C2-type 1. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCGGGGCCCAGGAGCAGCCCA 0.662000 8 22 0 0 1 0 0 DNAJC21 134218 broad.mit.edu 37 5 34937698 34937698 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr5:34937698G>A ENST00000382021.2 + 5 933 c.706G>A c.(706-708)Gaa>Aaa p.E236K DNAJC21_ENST00000303525.7_Missense_Mutation_p.E236K|DNAJC21_ENST00000342382.4_Missense_Mutation_p.E236K NM_194283.3 NP_919259.3 Q5F1R6 DJC21_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 21 236 Glu-rich. protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GAGGAAAGCCGAAGAGATGAG 0.542000 4 99 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35873661 35873661 + Silent SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr1:35873661G>A ENST00000314607.6 + 26 3929 c.3849G>A c.(3847-3849)ttG>ttA p.L1283L ZMYM4_ENST00000373297.2_Silent_p.L1194L NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 1283 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTGCTGAGTTGAGTTTGGGCT 0.403000 4 212 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21817074 21817074 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr5:21817074C>T ENST00000382254.1 - 9 2068 c.982G>A c.(982-984)Gga>Aga p.G328R CDH12_ENST00000522262.1_Missense_Mutation_p.G288R|CDH12_ENST00000504376.2_Missense_Mutation_p.G328R|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 328 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TTGATGACTCCCTCTTGTGTA 0.318000 HNSCC(59;0.17) 38 133 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43821380 43821380 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr15:43821380C>T ENST00000382031.1 + 5 8454 c.8423C>T c.(8422-8424)cCa>cTa p.P2808L MAP1A_ENST00000300231.5_Missense_Mutation_p.P2570L|MAP1A_ENST00000399453.1_Missense_Mutation_p.P2570L P78559 MAP1A_HUMAN microtubule-associated protein 1A 2570 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GACCCCCGCCCATCCCCTCCC 0.637000 7 19 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41568617 41568617 + Nonsense_Mutation SNP G G T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr22:41568617G>T ENST00000263253.7 + 28 5786 c.4567G>T c.(4567-4569)Gag>Tag p.E1523* RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1523 Poly-Glu. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 ACTGGAACAGGAGGAAGAAGA 0.388000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 16 26 2.32078e-09 2.56191e-09 1 1 0 ZHX2 22882 broad.mit.edu 37 8 123965761 123965761 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr8:123965761G>A ENST00000314393.4 + 3 2846 c.2011G>A c.(2011-2013)Gag>Aag p.E671K NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 671 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) GGTCCGAACTGAGATTGTGCG 0.552000 8 29 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220466132 220466132 + Silent SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr2:220466132C>T ENST00000456909.1 + 3 327 c.237C>T c.(235-237)ttC>ttT p.F79F STK11IP_ENST00000459692.1_3'UTR|STK11IP_ENST00000295641.10_Silent_p.F90F Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 90 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGTTTCTCTTCGATGTGCTGC 0.557000 6 34 0 0 1 0 0 SLC45A2 51151 broad.mit.edu 37 5 33951759 33951759 + Nonsense_Mutation SNP A A C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr5:33951759A>C ENST00000382102.3 - 5 1113 c.1056T>G c.(1054-1056)taT>taG p.Y352* SLC45A2_ENST00000345083.5_Nonsense_Mutation_p.Y244*|SLC45A2_ENST00000296589.4_Nonsense_Mutation_p.Y352*|SLC45A2_ENST00000342059.3_Nonsense_Mutation_p.Y293*|SLC45A2_ENST00000509381.1_Nonstop_Mutation_p.*244E NM_001012509.2 NP_001012527 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 352 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 TGTGTGCACTATAGGGATCCC 0.468000 63 120 0 0 1 0 0 BEND6 221336 broad.mit.edu 37 6 56857233 56857233 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr6:56857233G>A ENST00000370748.3 + 3 613 c.178G>A c.(178-180)Gag>Aag p.E60K BEND6_ENST00000370745.1_Missense_Mutation_p.E60K|BEND6_ENST00000370746.3_Missense_Mutation_p.E60K|BEND6_ENST00000370750.2_Missense_Mutation_p.E60K Q5SZJ8 BEND6_HUMAN BEN domain containing 6 60 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 17 TGAGGATGAAGAGCCTTTAGC 0.428000 48 158 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134031683 134031683 + Missense_Mutation SNP T T C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr11:134031683T>C ENST00000534548.2 - 28 3741 c.3677A>G c.(3676-3678)tAt>tGt p.Y1226C NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 1226 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) TACCCTGAGATAGTGCATGAG 0.433000 9 53 0 0 1 0 0 OR2G2 81470 broad.mit.edu 37 1 247752390 247752390 + Silent SNP C C G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr1:247752390C>G ENST00000320065.1 + 1 729 c.729C>G c.(727-729)acC>acG p.T243T RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CATTCGGGACCTGCTTCTCCC 0.502000 16 65 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220326779 220326779 + Splice_Site SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr2:220326779G>A ENST00000312358.7 + 7 2748 c.2616G>A c.(2614-2616)aaG>aaA p.K872K SPEG_ENST00000396688.1_Splice_Site_p.K23K|SPEG_ENST00000396689.2_Splice_Site_p.K23K|SPEG_ENST00000396695.2_Splice_Site_p.K80K|SPEG_ENST00000396698.1_Splice_Site_p.K768K|SPEG_ENST00000396686.1_Splice_Site_p.K23K|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 872 Ig-like 3. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCACCTTCAAGGTCAGACCCC 0.642000 5 24 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152286488 152286488 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr1:152286488G>A ENST00000368799.1 - 3 909 c.874C>T c.(874-876)Cgt>Tgt p.R292C FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 292 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATCCCCTACGCTTTCTTGTC 0.498000 Ichthyosis 71 210 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149212436 149212436 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr5:149212436C>T ENST00000309241.5 + 5 832 c.800C>T c.(799-801)tCc>tTc p.S267F PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S267F|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S228F|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S203F NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 267 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CCCCGGGACTCCCTAGCTCTG 0.672000 4 62 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29959896 29959896 + Missense_Mutation SNP G G C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chrX:29959896G>C ENST00000378993.1 + 9 1859 c.1186G>C c.(1186-1188)Gaa>Caa p.E396Q IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E396Q NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 396 innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 TTTTGGAGCTGAAGAGCTCGA 0.368000 9 83 0 0 1 0 0 RARB 5915 broad.mit.edu 37 3 25470259 25470259 + Missense_Mutation SNP G G T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr3:25470259G>T ENST00000330688.4 + 1 458 c.37G>T c.(37-39)Ggg>Tgg p.G13W RARB_ENST00000437042.2_Intron|RARB_ENST00000404969.1_Intron|RARB_ENST00000462272.1_3'UTR NM_000965.3 NP_000956.2 P10826 RARB_HUMAN retinoic acid receptor, beta 0 Modulating. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) AGTGAGTCCTGGGCAAATCCT 0.483000 36 133 6.90743e-12 7.77657e-12 1 1 0 TRPA1 8989 broad.mit.edu 37 8 72958768 72958768 + Missense_Mutation SNP C C G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr8:72958768C>G ENST00000262209.4 - 17 2248 c.2041G>C c.(2041-2043)Gaa>Caa p.E681Q RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 681 integral to plasma membrane p.E681K(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) GTAAGCGGTTCATATATAACA 0.269000 20 77 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65850673 65850673 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr17:65850673G>A ENST00000321892.4 + 2 1292 c.1231G>A c.(1231-1233)Gta>Ata p.V411I BPTF_ENST00000424123.3_Missense_Mutation_p.V272I|BPTF_ENST00000306378.6_Missense_Mutation_p.V411I|BPTF_ENST00000335221.5_Missense_Mutation_p.V411I Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 411 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) ATGTTCAGCAGTATACCATTT 0.483000 29 116 0 0 1 0 0 MIR518A1 574488 broad.mit.edu 37 19 54234301 54234301 + RNA SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr19:54234301G>A ENST00000385068.1 + 0 42 NR_030210.1 TCTGTTGTCTGAAAGAAGAGA 0.448000 4 169 0 0 1 0 0 ATP6AP2 10159 broad.mit.edu 37 X 40450513 40450513 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chrX:40450513G>A ENST00000378438.4 + 3 354 c.196G>A c.(196-198)Ggt>Agt p.G66S ATP6AP2_ENST00000535777.1_Missense_Mutation_p.G66S|ATP6AP2_ENST00000544975.1_5'UTR|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.G66S|ATP6AP2_ENST00000486558.1_3'UTR NM_005765.2 NP_005756.2 O75787 RENR_HUMAN ATPase, H+ transporting, lysosomal accessory protein 2 66 angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade external side of plasma membrane|integral to membrane protein binding|receptor activity endometrium(1)|large_intestine(1)|lung(2) 4 ACTCGCAGTGGGTAACCTGTT 0.488000 15 84 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187549439 187549439 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr4:187549439G>A ENST00000441802.2 - 9 4888 c.4679C>T c.(4678-4680)cCg>cTg p.P1560L NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1560 Cadherin 13. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GGTGAACCACGGGGCGTGGTC 0.498000 HNSCC(5;0.00058) 3 11 0 0 1 0 0 EHBP1L1 254102 broad.mit.edu 37 11 65349822 65349822 + Nonsense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr11:65349822G>A ENST00000309295.4 + 9 1944 c.1679G>A c.(1678-1680)tGg>tAg p.W560* NM_001099409.1 NP_001092879.1 Q8N3D4 EH1L1_HUMAN EH domain binding protein 1-like 1 560 central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 CTGGGAGGCTGGGAGGCAGAA 0.612000 7 13 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8161886 8161886 + Silent SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr19:8161886G>A ENST00000600128.1 - 43 5706 c.5292C>T c.(5290-5292)gtC>gtT p.V1764V FBN3_ENST00000601739.1_Silent_p.V1764V|FBN3_ENST00000270509.2_Silent_p.V1764V Q75N90 FBN3_HUMAN fibrillin 3 1764 EGF-like 27; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CACACTCATCGACATCTGGGA 0.547000 9 31 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55136233 55136233 + Missense_Mutation SNP A A G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr11:55136233A>G ENST00000314706.3 + 1 874 c.874A>G c.(874-876)Act>Gct p.T292A NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GCCCAATTCTACTTTTCCCAT 0.408000 51 167 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104579486 104579486 + Nonsense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr4:104579486C>T ENST00000304883.2 - 2 763 c.623G>A c.(622-624)tGg>tAg p.W208* NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 208 integral to plasma membrane tachykinin receptor activity p.W208*(1) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TGCTAGAATCCAAATACTTCC 0.413000 14 41 0 0 1 0 0 RBMS3 27303 broad.mit.edu 37 3 29781209 29781209 + Splice_Site SNP A A T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr3:29781209A>T ENST00000434693.2 + 5 1096 c.e5-1 RBMS3_ENST00000383767.2_Splice_Site|RBMS3_ENST00000273139.9_Splice_Site|RBMS3_ENST00000396583.3_Splice_Site|RBMS3_ENST00000452462.1_Splice_Site|RBMS3_ENST00000456853.1_Splice_Site|RBMS3_ENST00000445033.1_Splice_Site|RBMS3_ENST00000383766.2_Splice_Site NM_001003793.2 NP_001003793.1 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting protein 3 cytoplasm nucleotide binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) TCCTTCCCTTAGCAACAAGAG 0.368000 25 95 0 0 1 0 0 ARHGAP24 83478 broad.mit.edu 37 4 86916047 86916047 + Missense_Mutation SNP A A G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr4:86916047A>G ENST00000395184.1 + 9 1706 c.1240A>G c.(1240-1242)Aga>Gga p.R414G ARHGAP24_ENST00000395183.2_Missense_Mutation_p.R319G|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.R321G NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 414 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) AGATGTGTCTAGAAGCCCCCC 0.488000 23 125 0 0 1 0 0 LENG8 114823 broad.mit.edu 37 19 54963336 54963336 + Silent SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr19:54963336G>A ENST00000326764.5 + 3 584 c.105G>A c.(103-105)gaG>gaA p.E35E LENG8_ENST00000376514.2_Silent_p.E35E NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 35 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) CGATGCACGAGAACCCGGAGT 0.622000 5 77 0 0 1 0 0 NDN 4692 broad.mit.edu 37 15 23931656 23931656 + Nonsense_Mutation SNP C C A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr15:23931656C>A ENST00000331837.4 - 1 794 c.709G>T c.(709-711)Gag>Tag p.E237* NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 237 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) ACGAACTCCTCAGTGATGAGC 0.622000 Prader-Willi syndrome 6 43 0.00198382 0.00206901 1 1 0 NAP1L2 4674 broad.mit.edu 37 X 72434069 72434069 + Missense_Mutation SNP C C A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chrX:72434069C>A ENST00000373517.3 - 1 615 c.260G>T c.(259-261)cGt>cTt p.R87L NAP1L2_ENST00000536638.1_Intron NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 87 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) TCCTTTTGGACGGTCTGCCTC 0.463000 30 121 9.65963e-10 1.07329e-09 1 1 0 ZNF816 125893 broad.mit.edu 37 19 53454538 53454538 + Missense_Mutation SNP G G T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr19:53454538G>T ENST00000357666.4 - 5 790 c.490C>A c.(490-492)Ctg>Atg p.L164M ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.L164M|ZNF321P_ENST00000391777.3_Intron NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 164 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 AGTTCAGGCAGATGCGAATGA 0.403000 52 216 2.17126e-26 2.52818e-26 1 1 0 RSPH3 83861 broad.mit.edu 37 6 159420837 159420837 + Missense_Mutation SNP T T C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr6:159420837T>C ENST00000252655.1 - 1 361 c.172A>G c.(172-174)Aga>Gga p.R58G RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000367069.2_5'UTR|RSPH3_ENST00000297262.3_Missense_Mutation_p.R58G NM_031924.4 NP_114130.3 Q86UC2 RSPH3_HUMAN radial spoke 3 homolog (Chlamydomonas) 58 endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7) 23 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) CCCAGGGTTCTGTCTGGGGGC 0.677000 10 51 0 0 1 0 0 CCSER1 401145 broad.mit.edu 37 4 91389426 91389426 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr4:91389426G>A ENST00000509176.1 + 5 1933 c.1645G>A c.(1645-1647)Gca>Aca p.A549T CCSER1_ENST00000432775.2_Missense_Mutation_p.A549T|CCSER1_ENST00000333691.8_Missense_Mutation_p.A549T NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 p.A549P(2)|p.A551P(1) CTCATGTGCCGCAGTAGTTCT 0.373000 3 30 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 134125667 134125667 + Splice_Site SNP A A G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr8:134125667A>G ENST00000220616.4 + 44 7614 c.7574A>G c.(7573-7575)cAa>cGa p.Q2525R TG_ENST00000542445.1_Splice_Site_p.Q895R|TG_ENST00000377869.1_Splice_Site_p.Q2468R|TG_ENST00000519543.1_Splice_Site_p.Q658R NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2525 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TTTTTCTAGCAATTTGAGGAA 0.483000 7 42 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17881290 17881290 + Missense_Mutation SNP C C A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr19:17881290C>A ENST00000594202.1 + 8 672 c.393C>A c.(391-393)agC>agA p.S131R FCHO1_ENST00000252771.7_Missense_Mutation_p.S131R|FCHO1_ENST00000600676.1_Missense_Mutation_p.S131R|FCHO1_ENST00000597512.1_Missense_Mutation_p.S138R|FCHO1_ENST00000596536.1_Missense_Mutation_p.S131R|FCHO1_ENST00000539407.1_Missense_Mutation_p.S131R|FCHO1_ENST00000389133.4_Missense_Mutation_p.S131R|FCHO1_ENST00000595033.1_Missense_Mutation_p.S81R|FCHO1_ENST00000596951.1_Missense_Mutation_p.S131R NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 131 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 CGGGCGTCAGCCAGCTCCTGC 0.592000 11 25 3.86212e-05 4.1035e-05 1 1 0 CTPS2 56474 broad.mit.edu 37 X 16711297 16711297 + Silent SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chrX:16711297G>A ENST00000443824.1 - 6 1349 c.606C>T c.(604-606)cgC>cgT p.R202R CTPS2_ENST00000359276.4_Silent_p.R202R|CTPS2_ENST00000380241.3_Silent_p.R202R NM_001144002.1 NP_001137474.1 Q9NRF8 PYRG2_HUMAN CTP synthase 2 202 glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process cytosol ATP binding|CTP synthase activity breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Hepatocellular(33;0.0997) CCCTCAGTGCGCGGACGCTGT 0.512000 14 63 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13841085 13841085 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr5:13841085G>A ENST00000265104.4 - 34 5743 c.5639C>T c.(5638-5640)tCc>tTc p.S1880F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1880 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.S1880F(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCGTTCCGTGGAACTCAGATC 0.393000 Kartagener syndrome 4 133 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270015 114270015 + Silent SNP A A G rs146945410 byFrequency TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr7:114270015A>G ENST00000393500.3 + 11 1147 c.327A>G c.(325-327)caA>caG p.Q109Q FOXP2_ENST00000408937.3_Silent_p.Q209Q|FOXP2_ENST00000393491.3_Silent_p.Q92Q|FOXP2_ENST00000393494.2_Silent_p.Q184Q|FOXP2_ENST00000378237.3_Silent_p.Q184Q|FOXP2_ENST00000393498.2_Silent_p.Q164Q|FOXP2_ENST00000350908.4_Silent_p.Q184Q|FOXP2_ENST00000390668.3_Silent_p.Q208Q|FOXP2_ENST00000393489.3_Silent_p.Q92Q|FOXP2_ENST00000360232.4_Silent_p.Q184Q|FOXP2_ENST00000403559.4_Silent_p.Q201Q O15409 FOXP2_HUMAN forkhead box P2 184 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacagcagcagc 0.502000 3 69 0 0 1 0 0 NCOA4 8031 broad.mit.edu 37 10 51584708 51584708 + Nonsense_Mutation SNP T T A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr10:51584708T>A ENST00000452682.1 + 9 1107 c.855T>A c.(853-855)taT>taA p.Y285* NCOA4_ENST00000344348.6_Nonsense_Mutation_p.Y269*|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000430396.2_Nonsense_Mutation_p.Y169*|NCOA4_ENST00000438493.1_Nonsense_Mutation_p.Y285*|NCOA4_ENST00000374082.1_Nonsense_Mutation_p.Y269*|NCOA4_ENST00000374087.4_Nonsense_Mutation_p.Y269*|NCOA4_ENST00000414907.2_Nonsense_Mutation_p.Y103*|NCOA4_ENST00000443446.1_Nonsense_Mutation_p.Y269* NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 269 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 AATCAAGTTATCAAAAGTGTA 0.408000 T RET papillary thyroid 23 81 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179721045 179721045 + Missense_Mutation SNP C C A rs142773032 TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr2:179721045C>A ENST00000420890.2 - 18 2921 c.2804G>T c.(2803-2805)cGg>cTg p.R935L CCDC141_ENST00000295723.5_Missense_Mutation_p.R360L NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 360 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CTTCAGATTCCGAGATTTTTC 0.294000 11 81 3.86212e-05 4.1035e-05 1 1 0 SLC22A5 6584 broad.mit.edu 37 5 131728139 131728139 + Missense_Mutation SNP G G T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr5:131728139G>T ENST00000245407.3 + 8 1503 c.1282G>T c.(1282-1284)Gct>Tct p.A428S SLC22A5_ENST00000435065.2_Missense_Mutation_p.A452S|SLC22A5_ENST00000479605.1_3'UTR NM_003060.3 NP_003051.1 O76082 S22A5_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 5 428 positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GTATTATTTGGCTACAGTCCT 0.483000 4 114 0.00024832 0.000260583 1 1 0 MAP3K13 9175 broad.mit.edu 37 3 185165701 185165701 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr3:185165701C>T ENST00000265026.3 + 5 1310 c.976C>T c.(976-978)Cgg>Tgg p.R326W MAP3K13_ENST00000446828.1_Missense_Mutation_p.R119W|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R326W|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R182W|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R182W NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 326 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AGAGGTGATACGGAATGAACC 0.453000 4 38 0 0 1 0 0 NPEPPS 9520 broad.mit.edu 37 17 45697127 45697127 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr17:45697127G>A ENST00000322157.4 + 22 2821 c.2584G>A c.(2584-2586)Gat>Aat p.D862N RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000530173.1_Missense_Mutation_p.D858N|RP11-580I16.2_ENST00000582066.1_RNA|NPEPPS_ENST00000544660.1_Missense_Mutation_p.D782N NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 862 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 ATTTGCAGTTGATAAAATGGC 0.338000 11 142 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69926067 69926067 + Missense_Mutation SNP C C G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr10:69926067C>G ENST00000358913.5 + 10 2105 c.1617C>G c.(1615-1617)agC>agG p.S539R MYPN_ENST00000540630.1_Missense_Mutation_p.S539R|MYPN_ENST00000354393.2_Missense_Mutation_p.S264R NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 539 nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 AGGACCTCAGCAACAACGGGT 0.537000 11 38 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105178385 105178385 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chrX:105178385C>T ENST00000428173.2 + 20 3754 c.3451C>T c.(3451-3453)Cct>Tct p.P1151S NRK_ENST00000243300.9_Missense_Mutation_p.P1150S Q7Z2Y5 NRK_HUMAN Nik related kinase 1150 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 TCACTCATCTCCTTCCAAAGG 0.423000 HNSCC(51;0.14) 4 97 0 0 1 0 0 OR52B2 255725 broad.mit.edu 37 11 6191556 6191556 + Translation_Start_Site SNP T T C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr11:6191556T>C ENST00000530810.1 - 1 82 c.1A>G c.(1-3)Atg>Gtg p.M1V RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGTGACTCATGATGCACTTT 0.408000 8 16 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117280498 117280498 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr11:117280498G>A ENST00000278935.3 + 30 4060 c.3913G>A c.(3913-3915)Gac>Aac p.D1305N CEP164_ENST00000533706.1_3'UTR NM_001271933.1|NM_014956.4 NP_001258862.1|NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 1305 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) CCCTCCCCGGGACCCTAAGAG 0.652000 30 129 0 0 1 0 0 OR5D18 219438 broad.mit.edu 37 11 55587849 55587849 + Silent SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr11:55587849C>T ENST00000333976.4 + 1 764 c.744C>T c.(742-744)gcC>gcT p.A248A NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) ACCTGACTGCCATCACCATCT 0.517000 13 57 0 0 1 0 0 SERPING1 710 broad.mit.edu 37 11 57367474 57367474 + Silent SNP C C A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr11:57367474C>A ENST00000403558.1 + 2 642 c.276C>A c.(274-276)ccC>ccA p.P92P SERPING1_ENST00000378323.4_Silent_p.P63P|SERPING1_ENST00000378324.2_Silent_p.P6P|SERPING1_ENST00000278407.4_Silent_p.P58P|SERPING1_ENST00000340687.6_Silent_p.P58P NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 58 7 X 4 AA tandem repeats of [QE]-P-T-[TQ]. Missing (in HAE; type 2). blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 TCGTTGAACCCATCCTGGAGG 0.498000 9 39 2.80697e-09 3.07862e-09 1 1 0 LOC101927060 101927060 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 4 136 0 0 1 0 0 EPC1 80314 broad.mit.edu 37 10 32573746 32573746 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr10:32573746C>T ENST00000319778.6 - 10 1926 c.1624G>A c.(1624-1626)Gat>Aat p.D542N EPC1_ENST00000375110.2_Missense_Mutation_p.D492N|EPC1_ENST00000263062.8_Missense_Mutation_p.D542N NM_001272004.1|NM_001272019.2 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 542 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) GAGAGTTCATCATTGTCACTG 0.423000 9 135 0 0 1 0 0 MAK 4117 broad.mit.edu 37 6 10804121 10804121 + Nonsense_Mutation SNP A A C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr6:10804121A>C ENST00000313243.2 - 7 877 c.495T>G c.(493-495)taT>taG p.Y165* RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000536370.1_Nonsense_Mutation_p.Y165*|MAK_ENST00000474039.1_Nonsense_Mutation_p.Y165*|MAK_ENST00000538030.1_Nonsense_Mutation_p.Y165*|MAK_ENST00000354489.2_Nonsense_Mutation_p.Y165* P20794 MAK_HUMAN male germ cell-associated kinase 165 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1) 22 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) CAGGGGCACGATACCTATGAA 0.408000 12 55 0 0 1 0 0 SMPD3 55512 broad.mit.edu 37 16 68397415 68397415 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr16:68397415G>A ENST00000219334.5 - 7 2296 c.1693C>T c.(1693-1695)Ccc>Tcc p.P565S SMPD3_ENST00000563226.1_Missense_Mutation_p.P557S|SMPD3_ENST00000568373.1_Missense_Mutation_p.P565S NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 565 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) AGGTTGTCGGGGGTGCACACA 0.652000 10 24 0 0 1 0 0 ARAF 369 broad.mit.edu 37 X 47426132 47426132 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chrX:47426132G>A ENST00000377045.4 + 7 846 c.652G>A c.(652-654)Gtc>Atc p.V218I ARAF_ENST00000290277.6_Intron NM_001256196.1|NM_001654.4 NP_001243125.1|NP_001645.1 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene homolog 218 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 29 Adenosine triphosphate(DB00171) CACTCCCAACGTCCATATGGT 0.657000 7 30 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72316166 72316166 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr4:72316166G>A ENST00000340595.3 + 7 1178 c.982G>A c.(982-984)Gag>Aag p.E328K SLC4A4_ENST00000512686.1_Missense_Mutation_p.E328K|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Missense_Mutation_p.E372K|SLC4A4_ENST00000351898.6_Missense_Mutation_p.E372K|SLC4A4_ENST00000264485.5_Missense_Mutation_p.E372K NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 372 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TGGTATTGATGAGTTCCTAGA 0.413000 3 43 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3256958 3256958 + Missense_Mutation SNP A A G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr8:3256958A>G ENST00000602557.1 - 17 2918 c.2363T>C c.(2362-2364)aTa>aCa p.I788T CSMD1_ENST00000539096.1_Missense_Mutation_p.I787T|CSMD1_ENST00000602723.1_Missense_Mutation_p.I788T|CSMD1_ENST00000400186.3_Missense_Mutation_p.I788T|CSMD1_ENST00000542608.1_Missense_Mutation_p.I787T|CSMD1_ENST00000537824.1_Missense_Mutation_p.I787T|CSMD1_ENST00000520002.1_Missense_Mutation_p.I788T Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 788 CUB 5. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGCTTCAATTATCCATTCACA 0.408000 12 54 0 0 1 0 0 PIR 8544 broad.mit.edu 37 X 15509377 15509377 + Missense_Mutation SNP C C A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chrX:15509377C>A ENST00000380421.3 - 2 464 c.4G>T c.(4-6)Ggg>Tgg p.G2W PIR_ENST00000380420.5_Missense_Mutation_p.G2W|BMX_ENST00000357607.2_Intron NM_001018109.2|NM_003662.3 NP_001018119.1|NP_003653.1 O00625 PIR_HUMAN pirin (iron-binding nuclear protein) 2 transcription from RNA polymerase II promoter cytoplasm|nucleus metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 Hepatocellular(33;0.183) TTGGAGGACCCCATATCGGAG 0.502000 4 121 5.9392e-07 6.47221e-07 1 1 0 HUWE1 10075 broad.mit.edu 37 X 53564649 53564649 + Missense_Mutation SNP C C A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chrX:53564649C>A ENST00000342160.3 - 77 12462 c.12005G>T c.(12004-12006)cGc>cTc p.R4002L HUWE1_ENST00000262854.6_Missense_Mutation_p.R4002L Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 4002 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 CAGCTCTTGGCGGAAATATCT 0.473000 5 20 0.014758 0.0148453 1 1 0 OR4X1 390113 broad.mit.edu 37 11 48285821 48285821 + Nonsense_Mutation SNP C C T rs151032486 by1000genomes TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr11:48285821C>T ENST00000320048.1 + 1 409 c.409C>T c.(409-411)Cga>Tga p.R137* NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 CATGAACCAGCGAATGTGTGG 0.557000 12 40 0 0 1 0 0 CEP112 201134 broad.mit.edu 37 17 64049887 64049887 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr17:64049887C>T ENST00000392769.2 - 12 1403 c.1185G>A c.(1183-1185)atG>atA p.M395I CEP112_ENST00000541355.1_Missense_Mutation_p.M30I|CEP112_ENST00000537949.1_Missense_Mutation_p.M353I|CEP112_ENST00000535342.2_Missense_Mutation_p.M395I NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 395 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 ATTCACTCTCCATTTTATTCA 0.388000 31 128 0 0 1 0 0 OR4A47 403253 broad.mit.edu 37 11 48510909 48510909 + Missense_Mutation SNP G G C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr11:48510909G>C ENST00000446524.1 + 1 641 c.565G>C c.(565-567)Gac>Cac p.D189H NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 GGTCTGCACTGACACCCATGC 0.438000 40 162 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr1:142713774A>G ENST00000610091.1 - 0 1884 CTTTTTCCACATTGTCATTTT 0.284000 4 56 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77651410 77651410 + Silent SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr3:77651410C>T ENST00000461745.1 + 20 3804 c.2904C>T c.(2902-2904)ctC>ctT p.L968L ROBO2_ENST00000487694.3_Silent_p.L984L|ROBO2_ENST00000332191.8_Silent_p.L968L NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 968 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CAACGATGCTCTCAGATGGAG 0.468000 7 33 0 0 1 0 0 OR4C11 219429 broad.mit.edu 37 11 55370989 55370989 + Silent SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr11:55370989C>T ENST00000302231.4 - 1 885 c.861G>A c.(859-861)ctG>ctA p.L287L NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 CTGCATTCCTCAGTGTGTAGA 0.408000 9 22 0 0 1 0 0 TTI1 9675 broad.mit.edu 37 20 36641480 36641480 + Missense_Mutation SNP T T C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr20:36641480T>C ENST00000373448.2 - 3 977 c.739A>G c.(739-741)Atg>Gtg p.M247V TTI1_ENST00000373447.3_Missense_Mutation_p.M247V|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Missense_Mutation_p.M247V NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 247 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TCATCAGCCATAATGAAGCTC 0.443000 94 150 0 0 1 0 0 VANGL1 81839 broad.mit.edu 37 1 116206697 116206697 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr1:116206697G>A ENST00000355485.2 + 4 891 c.620G>A c.(619-621)cGc>cAc p.R207H VANGL1_ENST00000369510.4_Missense_Mutation_p.R205H|VANGL1_ENST00000310260.3_Missense_Mutation_p.R207H|VANGL1_ENST00000369509.1_Missense_Mutation_p.R207H NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 207 multicellular organismal development integral to membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TACGGGGTCCGCATTTTGGAC 0.512000 4 218 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150349050 150349050 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chrX:150349050C>T ENST00000218316.3 + 2 1064 c.995C>T c.(994-996)gCc>gTc p.A332V NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 332 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) ATGCAGGAGGCCCGTACCCTG 0.562000 27 107 0 0 1 0 0 ABCG2 9429 broad.mit.edu 37 4 89015741 89015741 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr4:89015741C>T ENST00000237612.3 - 15 2353 c.1808G>A c.(1807-1809)tGt>tAt p.C603Y ABCG2_ENST00000515655.1_Missense_Mutation_p.V600I NM_004827.2 NP_004818.2 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G (WHITE), member 2 603 ABC transmembrane type-2. cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) TGCATAGTTACAAGGATTGTT 0.413000 6 39 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49432335 49432335 + Nonsense_Mutation SNP G G C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr12:49432335G>C ENST00000301067.7 - 34 8803 c.8804C>G c.(8803-8805)tCa>tGa p.S2935* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.S2665*(1)|p.S2935*(1) CGGTGGGGCTGAGGGTTTCTG 0.612000 4 77 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3756519 3756519 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr11:3756519C>T ENST00000324932.7 - 13 1864 c.1444G>A c.(1444-1446)Gct>Act p.A482T NUP98_ENST00000359171.4_Missense_Mutation_p.A482T|NUP98_ENST00000355260.3_Missense_Mutation_p.A482T|NUP98_ENST00000397007.4_Missense_Mutation_p.A499T|NUP98_ENST00000397004.4_Missense_Mutation_p.A482T NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 499 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) TGGAGAACAGCCTGCTGGGCA 0.378000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 9 27 0 0 1 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92987953 92987953 + Silent SNP G G T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr15:92987953G>T ENST00000268164.3 + 5 873 c.636G>T c.(634-636)cgG>cgT p.R212R ST8SIA2_ENST00000539113.1_Silent_p.R191R NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 212 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) TCATCCAGCGGGCCTTTGAGG 0.607000 3 33 0.004672 0.00481358 1 1 0 EMC4 51234 broad.mit.edu 37 15 34519944 34519944 + Silent SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr15:34519944C>T ENST00000267750.4 + 3 368 c.252C>T c.(250-252)ctC>ctT p.L84L EMC4_ENST00000559078.1_Silent_p.L84L|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000557879.1_Intron|EMC4_ENST00000249209.4_Silent_p.L84L NM_016454.2 NP_057538.1 ER membrane protein complex subunit 4 CCATGAATCTCTTCATCATGT 0.473000 4 87 0 0 1 0 0 OR13H1 347468 broad.mit.edu 37 X 130678903 130678903 + Missense_Mutation SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chrX:130678903C>T ENST00000338616.3 + 1 954 c.856C>T c.(856-858)Ccc>Tcc p.P286S NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) CATGTTGAACCCCCTGATATA 0.398000 24 102 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168098372 168098372 + Missense_Mutation SNP G G C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr2:168098372G>C ENST00000409195.1 + 8 1217 c.1128G>C c.(1126-1128)aaG>aaC p.K376N XIRP2_ENST00000420519.1_Missense_Mutation_p.K409N|XIRP2_ENST00000409273.1_Missense_Mutation_p.K154N|XIRP2_ENST00000409605.1_Missense_Mutation_p.K154N|XIRP2_ENST00000295237.9_Missense_Mutation_p.K376N|XIRP2_ENST00000409043.1_Missense_Mutation_p.K376N|XIRP2_ENST00000409728.1_Missense_Mutation_p.K409N|XIRP2_ENST00000409756.2_Missense_Mutation_p.K376N NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 201 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CCCAGGAAAAGATCCTTTATT 0.368000 5 122 0 0 1 0 0 MBTPS2 51360 broad.mit.edu 37 X 21896197 21896197 + Missense_Mutation SNP C C A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chrX:21896197C>A ENST00000379484.5 + 8 1107 c.1008C>A c.(1006-1008)aaC>aaA p.N336K NM_015884.3 NP_056968.1 O43462 MBTP2_HUMAN membrane-bound transcription factor peptidase, site 2 336 Cys-rich. cholesterol metabolic process|proteolysis Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 AATGCTGTAACAATCACAGCC 0.328000 4 111 0.014758 0.0148453 1 1 0 ALPI 248 broad.mit.edu 37 2 233323654 233323654 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr2:233323654G>A ENST00000295463.3 + 11 1462 c.1385G>A c.(1384-1386)gGc>gAc p.G462D NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 462 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) TTTGCGCGCGGCCCGCAGGCG 0.682000 3 10 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215691 20215691 + Nonsense_Mutation SNP C C A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr14:20215691C>A ENST00000331723.1 + 1 105 c.105C>A c.(103-105)taC>taA p.Y35* NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTTTTTTTACATTGCTATTG 0.378000 21 263 4.26978e-12 4.83908e-12 1 1 0 FMN2 56776 broad.mit.edu 37 1 240371522 240371522 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr1:240371522G>A ENST00000319653.9 + 5 3640 c.3410G>A c.(3409-3411)gGa>gAa p.G1137E NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1137 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCTCTTCCCGGAGCGGGCATA 0.711000 8 18 0 0 1 0 0 PTGER2 5732 broad.mit.edu 37 14 52793984 52793984 + Missense_Mutation SNP G G T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr14:52793984G>T ENST00000245457.5 + 2 1043 c.889G>T c.(889-891)Gac>Tac p.D297Y PTGER2_ENST00000557436.1_Missense_Mutation_p.D42Y NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 297 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) GGAAAAATGGGACCTCCAAGC 0.393000 9 80 0.00621372 0.00636344 1 1 0 C15orf54 400360 broad.mit.edu 37 15 39544396 39544396 + Silent SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr15:39544396G>A ENST00000318578.3 + 2 428 c.60G>A c.(58-60)ccG>ccA p.P20P RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P NM_207445.2 NP_997328.1 Q8N8G6 CO054_HUMAN chromosome 15 open reading frame 54 20 p.P20P(1) NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2) 5 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) GGGCTGAGCCGCAAAGAATTT 0.468000 5 219 0 0 1 0 0 SYNRG 11276 broad.mit.edu 37 17 35921619 35921619 + Silent SNP T T C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr17:35921619T>C ENST00000339208.6 - 12 1694 c.1554A>G c.(1552-1554)aaA>aaG p.K518K SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Silent_p.K440K|SYNRG_ENST00000394378.2_Silent_p.K440K|SYNRG_ENST00000346661.4_Silent_p.K518K|SYNRG_ENST00000345615.4_Silent_p.K440K|SYNRG_ENST00000591288.1_Silent_p.K357K|SYNRG_ENST00000585472.1_Silent_p.K439K NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 518 Interaction with A1P1G1 and A1P1G2. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CTGCAATTCCTTTAAACACAG 0.353000 20 37 0 0 1 0 0 CLRN2 645104 broad.mit.edu 37 4 17528449 17528449 + Missense_Mutation SNP T T C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr4:17528449T>C ENST00000511148.2 + 3 545 c.443T>C c.(442-444)gTg>gCg p.V148A NM_001079827.2 NP_001073296.1 A0PK11 CLRN2_HUMAN clarin 2 148 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1) 15 GGCGGCGTCGTGGCGTTAGCC 0.522000 11 31 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 58001046 58001046 + Nonsense_Mutation SNP C C A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr16:58001046C>A ENST00000564448.1 - 2 205 c.145G>T c.(145-147)Gag>Tag p.E49* CNGB1_ENST00000311183.4_Nonsense_Mutation_p.E49*|CNGB1_ENST00000251102.8_Nonsense_Mutation_p.E49* Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 49 Glu-rich. sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GACTCGGACTCTGTCTCGGCC 0.617000 17 22 2.35188e-11 2.63039e-11 1 1 0 TBC1D23 55773 broad.mit.edu 37 3 100002547 100002547 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr3:100002547G>A ENST00000394144.4 + 4 375 c.368G>A c.(367-369)aGc>aAc p.S123N TBC1D23_ENST00000475134.1_Intron|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Missense_Mutation_p.S123N NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 123 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 ATTAAATATAGCACATCCCTT 0.378000 17 43 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25467558 25467558 + RNA SNP A A G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr15:25467558A>G ENST00000453082.2 + 0 753 SNORD115-28_ENST00000363931.1_RNA NR_003343.1 CATGCTCAATAGGATTACACT 0.507000 22 144 0 0 1 0 0 DAZAP1 26528 broad.mit.edu 37 19 1422377 1422377 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr19:1422377G>A ENST00000336761.6 + 6 650 c.445G>A c.(445-447)Gag>Aag p.E149K DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000233078.4_Missense_Mutation_p.E149K NM_170711.1 NP_733829.1 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 149 RRM 2. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTATGACGCCGAGAAGCAGAG 0.612000 46 102 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72090776 72090776 + Silent SNP G G T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr14:72090776G>T ENST00000555818.1 + 4 1989 c.1641G>T c.(1639-1641)ctG>ctT p.L547L SIPA1L1_ENST00000358550.2_Silent_p.L547L|SIPA1L1_ENST00000381232.3_Silent_p.L547L|SIPA1L1_ENST00000537413.1_Silent_p.L22L NM_001284247.1|NM_015556.1 NP_001271176.1|NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 547 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TCATGACACTGAGAGGTTCGG 0.582000 28 211 4.39465e-27 5.15234e-27 1 1 0 FOLH1 2346 broad.mit.edu 37 11 49190810 49190810 + Splice_Site SNP C C G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr11:49190810C>G ENST00000340334.7 - 13 1632 c.1264G>C c.(1264-1266)Gag>Cag p.E422Q FOLH1_ENST00000356696.3_Splice_Site_p.E437Q|FOLH1_ENST00000343844.4_Splice_Site_p.E129Q|FOLH1_ENST00000256999.2_Splice_Site_p.E437Q|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000533034.1_Splice_Site_p.E422Q NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 437 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) CTTGAATTCTCCTATAATAAA 0.348000 17 61 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117174351 117174351 + Missense_Mutation SNP G G T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr7:117174351G>T ENST00000003084.6 + 5 643 c.511G>T c.(511-513)Gtt>Ttt p.V171F CFTR_ENST00000454343.1_Missense_Mutation_p.V171F NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 171 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GTCAAGCCGTGTTCTAGATAA 0.269000 Cystic Fibrosis 7 30 8.12818e-05 8.58255e-05 1 1 0 KARS 3735 broad.mit.edu 37 16 75675610 75675610 + Missense_Mutation SNP C C G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr16:75675610C>G ENST00000319410.5 - 3 279 c.158G>C c.(157-159)aGa>aCa p.R53T KARS_ENST00000302445.3_Missense_Mutation_p.R25T|KARS_ENST00000568378.1_Intron NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 25 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) TTTCAGGCGTCTCTTCAGCTC 0.478000 27 51 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19498632 19498632 + Missense_Mutation SNP G G T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr16:19498632G>T ENST00000396229.2 + 17 3306 c.2557G>T c.(2557-2559)Gcc>Tcc p.A853S TMC5_ENST00000219821.5_Missense_Mutation_p.A607S|TMC5_ENST00000542583.2_Missense_Mutation_p.A853S|TMC5_ENST00000541464.1_Missense_Mutation_p.A801S|TMC5_ENST00000564959.1_Missense_Mutation_p.A536S|TMC5_ENST00000561503.1_Missense_Mutation_p.A494S|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000381414.4_Missense_Mutation_p.A853S NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 853 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GTGCACCCTGGCCATCACCAT 0.502000 16 17 3.45872e-05 3.7214e-05 1 1 0 NBEA 26960 broad.mit.edu 37 13 35770201 35770201 + Missense_Mutation SNP G G A TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr13:35770201G>A ENST00000540320.1 + 31 5662 c.5128G>A c.(5128-5130)Gaa>Aaa p.E1710K NBEA_ENST00000310336.4_Missense_Mutation_p.E1710K|NBEA_ENST00000400445.3_Missense_Mutation_p.E1710K|NBEA_ENST00000379939.2_Missense_Mutation_p.E1707K Q8NFP9 NBEA_HUMAN neurobeachin 1710 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding p.E1710K(1) NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TTTGTCATCCGAAGTGAAGAA 0.428000 4 50 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78667141 78667141 + Missense_Mutation SNP T T C TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr3:78667141T>C ENST00000436010.2 - 25 4806 c.3809A>G c.(3808-3810)cAt>cGt p.H1270R ROBO1_ENST00000467549.1_Missense_Mutation_p.H1209R|ROBO1_ENST00000495273.1_Missense_Mutation_p.H1264R|ROBO1_ENST00000464233.1_Missense_Mutation_p.H1309R Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1309 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GCCATAGGTATGTGGAGGGGA 0.507000 8 36 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33842376 33842376 + Silent SNP C C T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr15:33842376C>T ENST00000389232.4 + 10 901 c.831C>T c.(829-831)aaC>aaT p.N277N RYR3_ENST00000415757.3_Silent_p.N277N NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 277 MIR 4. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GTGGCAGTAACATCAGATGGG 0.468000 4 19 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179611798 179611798 + Frame_Shift_Del DEL G G - TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr2:179611798delG ENST00000360870.5 - 46 15551 c.15329delC c.(15328-15330)ccafs p.P5110fs TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1218 Ig-like 31. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCCTCCCCTGGGGGTGTGGA 0.488 33 92 --- --- --- --- RYK 6259 broad.mit.edu 37 3 133877014 133877014 + Frame_Shift_Del DEL G G - TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr3:133877014delG ENST00000427044.2 - 16 1850 c.1240delC c.(1240-1242)ctgfs p.L414fs RYK_ENST00000296084.4_Frame_Shift_Del_p.L604fs P34925 RYK_HUMAN receptor-like tyrosine kinase 600 Protein kinase. corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity lung(1)|ovary(3) 4 TAGGCCCCCAGGGCTGCATGA 0.547 2 4 --- --- --- --- ADH1C 126 broad.mit.edu 37 4 100269040 100269040 + RNA DEL C C - TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr4:100269040delC ENST00000515683.1 - 0 370 ADH1C_ENST00000510055.1_RNA NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) CCAGTGTTTTCCCACGcttgc 0.428 11 26 --- --- --- --- THBS2 7058 broad.mit.edu 37 6 169641890 169641890 + Frame_Shift_Del DEL G G - TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr6:169641890delG ENST00000366787.3 - 6 1107 c.858delC c.(856-858)ctcfs p.L286fs NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 286 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GCTGGTTCACGAGGACGTGGA 0.667 24 93 --- --- --- --- AUTS2 26053 broad.mit.edu 37 7 70255577 70255579 + In_Frame_Del DEL CCA CCA - rs35604576 TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr7:70255577_70255579delCCA ENST00000342771.4 + 19 3696_3698 c.3375_3377delCCA c.(3373-3378)agccac>agc p.H1133del AUTS2_ENST00000406775.2_In_Frame_Del_p.H1109del NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 1133 His-rich. breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) ACGACTACAGccaccaccaccac 0.680 2 4 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48866910 48866910 + Frame_Shift_Del DEL T T - TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr8:48866910delT ENST00000314191.2 - 5 552 c.496delA c.(496-498)atafs p.I166fs PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.I166fs NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 166 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GTATCTGGTATTTTTTTTTTC 0.264 Non-homologous end-joining 3 3 --- --- --- --- HECTD2 143279 broad.mit.edu 37 10 93247480 93247481 + Frame_Shift_Ins INS - - A rs57105282 TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr10:93247480_93247481insA ENST00000446394.1 + 12 1248_1249 c.1148_1149insA c.(1147-1152)gcaaaafs p.AK383fs HECTD2_ENST00000536715.1_Intron|HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.AK379fs|HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.AK29fs|HECTD2_ENST00000498446.1_3'UTR NM_001284274.1 NP_001271203.1 Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 379 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 TCTGTAGCTGCAAAAAAAATCA 0.317 11 97 --- --- --- --- RAB21 23011 broad.mit.edu 37 12 72175847 72175847 + Frame_Shift_Del DEL C C - TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr12:72175847delC ENST00000261263.3 + 5 684 c.428delC c.(427-429)tccfs p.S143fs NM_014999.2 NP_055814.1 Q9UL25 RAB21_HUMAN RAB21, member RAS oncogene family 143 protein transport|small GTPase mediated signal transduction cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane GDP binding|GTP binding|GTPase activity|protein binding large_intestine(1)|lung(4)|prostate(1) 6 AGACATGTTTCCATTCAAGAA 0.323 13 107 --- --- --- --- USP12 219333 broad.mit.edu 37 13 27643445 27643449 + Frame_Shift_Del DEL ATGTA ATGTA - TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr13:27643445_27643449delATGTA ENST00000282344.6 - 9 1340_1344 c.1084_1088delTACAT c.(1084-1089)tacatcfs p.YI362fs NM_182488.3 NP_872294.2 O75317 UBP12_HUMAN ubiquitin specific peptidase 12 362 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung SC(185;0.0161) all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246) ATAGAAAAGGATGTAACCAGACTCA 0.395 23 98 --- --- --- --- RB1 5925 broad.mit.edu 37 13 49030484 49030485 + Splice_Site INS - - G TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr13:49030484_49030485insG ENST00000267163.4 + 19 2097_2098 c.1959_1960insG c.(1960-1962)gtg>Ggtg p.V654fs NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 654 Domain B.|Pocket; binds T and E1A. V -> E (in RB). androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(10)|p.V654M(3)|p.V654fs*4(1)|p.V654L(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTTATAAAAAAGGTTAGTAGAT 0.406 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 10 30 --- --- --- --- IGHG2 3501 broad.mit.edu 37 14 106110518 106110519 + RNA INS - - T TCGA-XF-A9SX-01A-21D-A391-08 TCGA-XF-A9SX-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d6d53eb-8aba-4960-ae10-3e72ae78898e 90feafb3-10d4-4082-a7d1-a4fe3554e710 g.chr14:106110518_106110519insT ENST00000390545.2 - 0 295 ACAGTTTGGCCTTTGGGGTCGG 0.594 17 62 --- --- --- ---